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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HGSNAT Gene

protein-coding GIFtS: 52
GCID: GC08P042995

heparan-alpha-glucosaminide N-acetyltransferase

(Previous name: transmembrane protein 76 )
(Previous symbol: TMEM76)

Explore 6 diseases affiliated with
HGSNAT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Heparan-Alpha-Glucosaminide N-Acetyltransferase¹ ²		MPS3C² ⁵
TMEM76¹ ² ³ ⁵		FLJ32731¹
Transmembrane Protein 76¹ ² ³		EC 2.3.1.78³
HGNAT¹ ²

External Ids:	HGNC: 26527¹	Entrez Gene: 138050²	Ensembl: ENSG00000165102⁷	OMIM: 610453⁵	UniProtKB: Q68CP4³

Export aliases for HGSNAT gene to outside databases

Previous GC identifers: GC08P043117 GC08P041520

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HGSNAT:

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation

of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal

storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. (provided by

RefSeq, Jan 2009)

UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4

Function: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of

intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase

Gene Wiki entry for HGSNAT

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HGSNAT gene promoter:
HOXA9B HOXA9 GR Pbx1a LCR-F1 Meis-1b GR-alpha AP-2alpha AP-2alphaA Meis-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for HGSNAT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HGSNAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.1 Ensembl cytogenetic band: 8p11.21 HGNC cytogenetic band: 8p11.1

HGSNAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HGSNAT gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P042995: view genomic region (about GC identifiers)

Start:	42,995,556 bp from pter	End:	43,057,998 bp from pter
Size:	62,443 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4 (See protein sequence)

Recommended Name: Heparan-alpha-glucosaminide N-acetyltransferase

Size: 663 amino acids; 73293 Da

Subunit: Homooligomer. Homooligomerization is necessary for enzyme activity

Subcellular location: Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2.

The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably

targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or

dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain

Miscellaneous: A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic

Secondary accessions: B4E2V0

Alternative initiation: 2 isoforms: Q68CP4-1 Q68CP4-2 (Intralysosomal proteolytic cleavage is faster and enzymatic activity higher than isoform 2)

Explore the universe of human proteins at neXtProt for HGSNAT: NX_Q68CP4

Post-translational modifications:

Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second

luminal domain and is essential for the activation of the enzyme¹

Glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q68CP4

HGSNAT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689632.2

ENSEMBL proteins:

ENSP00000368965 ENSP00000430032 ENSP00000429109 ENSP00000430151 ENSP00000428322

ENSP00000429029 ENSP00000389524 ENSP00000297798

Reactome Protein details: Q68CP4
Human Recombinant Protein Products:

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	Uscn Proteins for HGSNAT

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005765	lysosomal membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

HGSNAT for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for HGSNAT

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGSNAT for domains About GeneDecksing

1 InterPro domain/family:

IPR012429 DUF1624

Graphical View of Domain Structure for InterPro Entry Q68CP4

ProtoNet protein and cluster: Q68CP4

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4

Function: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of

intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase

Catalytic activity: Acetyl-CoA + heparan sulfate alpha-D-glucosaminide = CoA + heparan sulfate

N-acetyl-alpha-D-glucosaminide

Enzyme Number (IUBMB): EC 2.3.1.78¹

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HGSNAT
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate HGSNAT:
		hsa-miR-3164 hsa-miR-623 hsa-miR-3938 hsa-miR-224 hsa-miR-204 hsa-miR-211
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015019	heparan-alpha-glucosaminide N-acetyltransferase activity	IEA	--
GO:0016746	transferase activity, transferring acyl groups	IDA	--

HGSNAT for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/15 pathways (see all 15)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIID - Sanfilippo syndrome D	1.00
MPS I - Hurler syndrome	1.00	MPS IX - Natowicz syndrome	1.00
Mucopolysaccharidoses	1.00	MPS II - Hunter syndrome	1.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Disease

Disease

1.00

Lysosome

Lysosome

1.00

Glycosaminoglycan degradation

Glycosaminoglycan degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/18 Reactome Pathways for HGSNAT (see all 18)

	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	MPS II - Hunter syndrome
	MPS IIIA - Sanfilippo syndrome A

3 Kegg Pathways (Kegg details for HGSNAT):

	Glycosaminoglycan degradation
	Metabolic pathways
	Lysosome

HGSNAT for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HGSNAT

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for HGSNAT (ENSP00000368965⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NAGLU	ENSP00000225927⁴	STRING: ENSP00000225927
SGSH	ENSP00000314606⁴	STRING: ENSP00000314606

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006027	glycosaminoglycan catabolic process	TAS	--
GO:0007041	lysosomal transport	IDA	--
GO:0030203	glycosaminoglycan metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

HGSNAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HGSNAT

3 HMDB Compounds for HGSNAT About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Heparan sulfate	HHS 5 (see all 13)	9050-30-0	--

Search CenterWatch for drugs/clinical trials and news about HGSNAT / HGNAT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HGSNAT gene:

NM_152419.2

Unigene Cluster for HGSNAT:

Heparan-alpha-glucosaminide N-acetyltransferase

Hs.600384 [show with all ESTs]

Unigene Representative Sequence: NM_152419

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000379644 ENST00000517319 ENST00000520704 ENST00000522082 ENST00000524016

ENST00000521576 ENST00000519000 ENST00000520678 ENST00000523989 ENST00000519705

ENST00000458501(uc003xpx.4) ENST00000297798

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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate HGSNAT:
		hsa-miR-3164 hsa-miR-623 hsa-miR-3938 hsa-miR-224 hsa-miR-204 hsa-miR-211
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AK025895.1 AK057293.1 AK074839.1 AK304441.1 AK308922.1 AL355714.1 AL832870.1 BC012452.1

BC042037.1 BC050672.1 BC056149.1 CR457352.1 CR749838.1

19 DOTS entries:

DT.443544 DT.451524 DT.101984185 DT.100686948 DT.408044 DT.92452256 DT.95073394 DT.100643187

DT.121490772 DT.100787696 DT.121490787 DT.70104568 DT.121490711 DT.121490780 DT.86849721 DT.92020733

DT.92452257 DT.95360470 DT.95365032

24/252 AceView cDNA sequences (see all 252):

AI686960 BQ890295 AI394146 CD637812 BX508054 T07847 AA578650 BM997097

AI041465 AA932635 BC056149 BU738954 AW328331 BQ002264 AA291258 AW054976

BF056807 BQ694068 BF940828 AA614795 C01786 AA113443 AA428245 BX115923

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HGSNAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCCAAACA

About this image

HGSNAT expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HGSNAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HGSNAT

SOURCE GeneReport for Unigene cluster: Hs.600384

UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4

Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta

and liver

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGSNAT gene from 20 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chimpanzee (Pan troglodytes)	Mammalia	HGSNAT¹	heparan-alpha-glucosaminide N-acetyltransferase	99.63(n) 100(a)		464155 XM_519741.4 XP_519741.3
mouse (Mus musculus)	Mammalia	Hgsnat^{1 , 5}	heparan-alpha-glucosaminide N-acetyltransferase^{1, 5}	81.49(n)¹ 82.34(a)¹		8 (14.22 cM)⁵ 52120¹ NM_029884.1¹ NP_084160.1¹ 25944459⁵
cow (Bos taurus)	Mammalia	HGSNAT¹	heparan-alpha-glucosaminide N-acetyltransferase	80.19(n) 82.95(a)		511607 XM_002698729.1 XP_002698775.1
dog (Canis familiaris)	Mammalia	HGSNAT¹	heparan-alpha-glucosaminide N-acetyltransferase	85.36(n) 84.83(a)		482833 XM_539948.3 XP_539948.3
oppossum (Monodelphis domestica)	Mammalia	HGSNAT⁶	Uncharacterized protein	70(a)	1 ↔ 1	1(578727935-578760684)
platypus (Ornithorhynchus anatinus)	Mammalia	-- --	Uncharacterized protein	70(a) 68(a)	1 ↔ 1 possible ortholog	Contig13016(1027-13172) Contig7808(2701-24685)
chicken (Gallus gallus)	Aves	HGSNAT¹	heparan-alpha-glucosaminide N-acetyltransferase	65.35(n) 63.17(a)		422490 XM_420455.3 XP_420455.3
lizard (Anolis carolinensis)	Reptilia	HGSNAT⁶	--	63(a)	1 ↔ 1	6(58880679-58911017)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BQ389315.1²	--	73.47(n)		BQ389315.1
zebrafish (Danio rerio)	Actinopterygii	si:dkey-192p21.6¹	si:dkey-192p21.6	54.25(n) 47.38(a)		565246 NM_001145587.1 NP_001139059.1
sea urchin (Strongylocentrotus purpuratus)	Echinoidea	-- -- (see all 3)	--	48(a) 44(a) (see all 3)	possible ortholog 1 ↔ 1 (see all 3)	scaffold_4220(29558-31185) scaffold_71(165869-172006)
fruit fly (Drosophila melanogaster)	Insecta	CG6903¹	CG6903	48.13(n) 41.1(a)		31423 NM_131970.1 NP_572198.1
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP005761¹	AGAP005761-PA	46.5(n) 41.3(a)		1276430 XM_315774.3 XP_315774.3
honey bee (Apis mellifera)	Insecta	-- --	--	36(a) 34(a)	many → 1 many → 1	GroupUn.6983(919-3424) Group16.5(230671-234241)
common water flea (Daphnia pulex)	Crustacea	-- --	--	41(a) 36(a)	many → 1 many → 1	scaffold_61(129287-131974) scaffold_9(117509-124300)
Trichoplax (Trichoplax adhaerens)	Tricoplacia	-- --	--	29(a) 28(a)	many → 1 many → 1	scaffold_3(5300637-5303168) scaffold_12(1740160-1745418)
sea anemone (Nematostella vectensis)	Anthozoa	-- --	--	48(a) 47(a)	possible ortholog possible ortholog	scaffold_15(589863-612286) scaffold_15(626842-633157)
amoeba (Dictyostelium discoideum)	Dictyostelia	-- --	--	31(a) 23(a)	1 ↔ 1 possible ortholog	4(4343761-4345981) 1(4389266-4390889)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G27730¹	heparan-alpha-glucosaminide N-acetyltransferase	44.3(n) 34.2(a)		832835 NM_122655.3 NP_568500.1
rice (Oryza sativa)	Liliopsida	Os01g0931100¹	hypothetical protein	43.24(n) 30.92(a)		4326815 NM_001051829.1 NP_001045294.1

Species with no ortholog for HGSNAT

ENSEMBL Gene Tree for HGSNAT (if available)
TreeFam Gene Tree for HGSNAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184586487^1,2		--	42993601(+)	`CAACAC/TGCCAG`	1	--	us2k¹		0	--	--	--	--
rs189348958^1,2		--	42993633(+)	`CATTCA/GGACTT`	1	--	us2k¹		0	--	--	--	--
rs34742882^1,2	C,F,	--	42993756(+)	`TCTGTT/CGCCCA`	1	--	us2k¹		4		NA	8
rs181962606^1,2		--	42994049(+)	`GGTACG/TTGCCA`	1	--	us2k¹		0	--	--	--	--
rs148200380^1,2		--	42994062(+)	`ACGCCC/TGGCTA`	1	--	us2k¹		0	--	--	--	--
rs141088812^1,2		--	42994150(+)	`CCTGCC/TTTGGC`	1	--	us2k¹		0	--	--	--	--
rs184370342^1,2		--	42994155(+)	`CTTGGC/TCTCCC`	1	--	us2k¹		0	--	--	--	--
rs112466231^1,2	C,	--	42994162(+)	`TCCCAG/AAGTGC`	1	--	us2k¹		1		WA	2
rs138961491^1,2		--	42994178(+)	`TTACAA/GGCGTG`	1	--	us2k¹		0	--	--	--	--
rs189073546^1,2		--	42994201(+)	`CGGCCA/CTATGT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HGSNAT (42995556 - 43057998 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for HGSNAT
3 CNVs: 53780 29790 52536
Human Gene Mutation Database (HGMD): HGSNAT

Locus Specific Mutation Databases (LSDB): HGSNAT

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HGSNAT for disorders           About GeneDecksing

OMIM gene information: 610453
OMIM disorders: 252930
UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4

Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]; also known as

Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage

disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system

degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe

neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the

second or third decade of life

6 diseases for HGSNAT: About MalaCards

lysosomal storage disease mucopolysaccharidosis type iiic (sanfilippo c) mucopolysaccharidosis type iiic mucopolysaccharidosis

mucopolysaccharidosis iii mucopolysaccharidosis ii

1 disease from the University of Copenhagen DISEASES database for HGSNAT:

Mucopolysaccharidosis

Export disorders for HGSNAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HGSNAT gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with HGSNAT)

Utopia: connect your pdf to the dynamic
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Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PubMed id 17033958)^{1, 2, 3} Hrebicek M.... Pshezhetsky A.V. (2006)
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). (PubMed id 16960811)^{1, 2, 3} Fan X....Mahuran D.J. (2006)
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. (PubMed id 17397050)^{1, 2, 9} Fedele A.O....Ballabio A. (2007)
Analysis of the biogenesis of heparan sulfate acetyl- CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanis m underlying its complete deficiency in mucopolysaccharidosis IIIC. (PubMed id 20650889)^{1, 2} Durand S....Pshezhetsky A.V. (2010)
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). (PubMed id 20583299)^{1, 2} Fedele A.O. and Hopwood J.J. (2010)
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) ge ne. (PubMed id 19479962)^{1, 2} Feldhammer M....Pshezhetsky A.V. (2009)
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (PubMed id 19823584)^{1, 2} Feldhammer M....Pshezhetsky A.V. (2009)
DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)^{1, 2} Nusbaum C....Lander E.S. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis II IC. (PubMed id 21957468)¹ Fan X....Mahuran D. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 138050	HGNC: 26527	AceView: FLJ32731	Ensembl:ENSG00000165102	euGenes: HUgn138050
ECgene: HGSNAT	Kegg: 138050	H-InvDB: HGSNAT

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HGSNAT	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HGSNAT

Intellectual Property for HGSNAT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HGSNAT gene:
Search GeneIP for patents involving HGSNAT

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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heparan-alpha-glucosaminide N-acetyltransferase

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heparan-alpha-glucosaminide N-acetyltransferase

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